Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044545
rs797044545
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
CUI: C4551983
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		G 0.700 CausalMutation CLINVAR DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 24814846 2014